EXOSC5, exosome component 5, 56915

N. diseases: 18; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555764014
rs1555764014
Entrez Id: 593;56915
Gene Symbol: BCKDHA;EXOSC5
BCKDHA;EXOSC5
CUI: C0024776
Disease:
Maple Syrup Urine Disease 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568499702
rs1568499702
Entrez Id: 593;56915
Gene Symbol: BCKDHA;EXOSC5
BCKDHA;EXOSC5
CUI: C0024776
Disease:
Maple Syrup Urine Disease 		C 0.700 GeneticVariation CLINVAR